Mutagenetix > Incidental Mutation

Incidental Mutation 'R1621:Slc25a48'

174678

Institutional Source

Beutler Lab

Gene Symbol

Slc25a48

Ensembl Gene

ENSMUSG00000021509

Gene Name

solute carrier family 25, member 48

Synonyms

MMRRC Submission

039658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R1621 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56585774-56620180 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 56618283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 307 (*307R)

Ref Sequence

ENSEMBL: ENSMUSP00000021971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021971]

AlphaFold

Q8BW66

Predicted Effect

probably null
Transcript: ENSMUST00000021971
AA Change: *307R

SMART Domains

Protein: ENSMUSP00000021971
Gene: ENSMUSG00000021509
AA Change: *307R

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	3	91	5.3e-20	PFAM
Pfam:Mito_carr	101	204	3.3e-17	PFAM
Pfam:Mito_carr	208	301	1.3e-23	PFAM

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.0%
20x: 84.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,564,041 (GRCm39)	N253S	probably benign	Het
Adamts3	G	A	5: 89,869,560 (GRCm39)	H272Y	probably damaging	Het
Arpc5l	T	C	2: 38,903,913 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,977,245 (GRCm39)	V4333I	probably benign	Het
Cd38	A	G	5: 44,058,866 (GRCm39)	D160G	probably benign	Het
Cdc7	A	G	5: 107,112,920 (GRCm39)	S13G	probably benign	Het
Chrm5	G	T	2: 112,310,182 (GRCm39)	D311E	probably benign	Het
Ctns	A	G	11: 73,079,298 (GRCm39)	V140A	possibly damaging	Het
Ets2	A	G	16: 95,510,913 (GRCm39)	D57G	probably damaging	Het
Fbxo36	T	A	1: 84,817,595 (GRCm39)	M1K	probably null	Het
Fhod3	T	A	18: 25,155,924 (GRCm39)	I514K	probably benign	Het
G3bp2	A	T	5: 92,204,137 (GRCm39)	F350I	probably damaging	Het
Hs3st3a1	G	T	11: 64,327,049 (GRCm39)	V53F	probably benign	Het
Ippk	T	C	13: 49,615,044 (GRCm39)	S427P	probably benign	Het
Irgm2	T	C	11: 58,111,364 (GRCm39)	F364L	probably benign	Het
Lipn	A	G	19: 34,046,113 (GRCm39)	K29E	probably benign	Het
Map3k11	A	G	19: 5,740,834 (GRCm39)	E187G	probably damaging	Het
Nrxn3	A	G	12: 88,762,480 (GRCm39)	M176V	probably benign	Het
Or2z9	A	G	8: 72,853,973 (GRCm39)	Y123C	probably damaging	Het
Palm3	G	A	8: 84,756,651 (GRCm39)	S721N	possibly damaging	Het
Plxnb1	A	G	9: 108,935,873 (GRCm39)	I1088V	probably benign	Het
Pmfbp1	A	G	8: 110,226,170 (GRCm39)	H69R	probably benign	Het
Pou2af1	C	T	9: 51,144,160 (GRCm39)	H54Y	probably damaging	Het
Prl6a1	C	T	13: 27,501,993 (GRCm39)	T120I	probably benign	Het
Psen2	A	T	1: 180,057,030 (GRCm39)	F331L	probably benign	Het
Pygl	T	C	12: 70,237,866 (GRCm39)	D724G	probably damaging	Het
Slc39a6	T	C	18: 24,733,946 (GRCm39)	K248E	probably benign	Het
Slco4a1	A	T	2: 180,112,925 (GRCm39)	T386S	probably benign	Het
Snx7	T	C	3: 117,630,805 (GRCm39)	I185V	possibly damaging	Het
Tmem94	A	G	11: 115,676,671 (GRCm39)	S59G	probably benign	Het
Top3a	A	T	11: 60,641,433 (GRCm39)	I392N	probably damaging	Het
Utp20	A	G	10: 88,598,733 (GRCm39)	I81T	probably benign	Het
Utrn	A	G	10: 12,589,027 (GRCm39)	L893S	probably benign	Het

Other mutations in Slc25a48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Slc25a48	APN	13	56,612,758 (GRCm39)	splice site	probably benign
IGL01746:Slc25a48	APN	13	56,618,166 (GRCm39)	missense	probably damaging	0.99
IGL03209:Slc25a48	APN	13	56,618,272 (GRCm39)	missense	probably benign	0.00
R0068:Slc25a48	UTSW	13	56,599,024 (GRCm39)	missense	probably damaging	1.00
R0068:Slc25a48	UTSW	13	56,599,024 (GRCm39)	missense	probably damaging	1.00
R0550:Slc25a48	UTSW	13	56,596,811 (GRCm39)	missense	probably benign	0.03
R1397:Slc25a48	UTSW	13	56,612,864 (GRCm39)	missense	probably damaging	0.98
R1426:Slc25a48	UTSW	13	56,596,804 (GRCm39)	splice site	probably benign
R1937:Slc25a48	UTSW	13	56,596,811 (GRCm39)	missense	probably damaging	0.99
R4710:Slc25a48	UTSW	13	56,611,379 (GRCm39)	missense	probably damaging	0.97
R4735:Slc25a48	UTSW	13	56,596,887 (GRCm39)	splice site	probably null
R6107:Slc25a48	UTSW	13	56,612,891 (GRCm39)	missense	probably damaging	1.00
R7960:Slc25a48	UTSW	13	56,611,411 (GRCm39)	missense	probably damaging	0.99
R8695:Slc25a48	UTSW	13	56,612,825 (GRCm39)	missense	probably damaging	1.00
R8939:Slc25a48	UTSW	13	56,611,519 (GRCm39)	missense	probably damaging	0.98
R9278:Slc25a48	UTSW	13	56,611,552 (GRCm39)	missense	probably benign
Z1176:Slc25a48	UTSW	13	56,598,987 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GGAAACCTGCTAGGGTCTTTCCAC -3'
(R):5'- CCAGCCACGGCTACTTCAGAATTG -3'

Sequencing Primer
(F):5'- TGGGCTACCTTGCAGTCAC -3'
(R):5'- TTGCAATGTGATGGTGAGAAG -3'

Posted On

2014-04-24